Abstract
The purpose of this paper is to describe a patient with mild features of the Werner syndrome and to stress the usefulness of a generally unappreciated diagnostic chromosomal finding in the Werner syndrome. Chromosomal studies indicated a mosaic constitution: 45,X/46,X,r(X)/47,XXX and translocations involving the X chromosome and chromosomes 16 and 19. She also had a normal 46,XX cell line. Specifically, 10% of her cells had a 45,X chromosome constitution.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 119-126 |
| Number of pages | 8 |
| Journal | Birth Defects: Original Article Series |
| Volume | 21 |
| Issue number | 2 |
| Publication status | Published - Dec 1 1985 |
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ASJC Scopus subject areas
- Developmental Biology
- Genetics(clinical)
Cite this
Jaramillo, C., Jorgenson, R. J., Miles, D. A., & Moore, C. M. (1985). Chromosomal diagnosis of the Werner syndrome. Birth Defects: Original Article Series, 21(2), 119-126.